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Comment on Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort

European Journal of Human Genetics volume 33, pages 829–830 (2025)Cite this article

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The Original Article was published on 10 March 2025

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The identification of hereditary cancer syndromes (HCS) presents a significant challenge globally. In Latin America, comprehensive implementation of genetic testing is essential. This widespread adoption is expected to alleviate patient and familial suffering from preventable cancers, optimize healthcare system efficiency by reducing unnecessary costs, and guide the development of precision medicine initiatives. By facilitating early detection and personalized treatment plans, genetic testing can substantially improve clinical outcomes and advance the promise of precision oncology across the entire region. The study by Sanabria-Salas et al. [1], “Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort,” offers insightful contributions by examining the spectrum and prevalence of germline pathogenic (PVs) and likely pathogenic variants in a high-risk cohort—a foundational step in expanding cancer genetic services in Colombia.

Sanabria-Salas et al. [1] conducted their study through Colombia’s largest Institutional hereditary cancer program, exploring the frequency and diversity of PVs linked to HCS among patients with solid tumors. The advent of such programs is pivotal not only for Colombia but also for the broader Latin American context where genetic testing is inconsistently applied within the healthcare systems.

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References

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  1. Department of Tumor Biology, Institute for Cancer Research, Oslo University Hospital, Oslo, Norway

    Mev Dominguez-Valentin

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  1. Mev Dominguez-Valentin
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Correspondence to Mev Dominguez-Valentin.

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Dominguez-Valentin, M. Comment on Building a hereditary cancer program in Colombia: analysis of germline pathogenic and likely pathogenic variants spectrum in a high-risk cohort. Eur J Hum Genet 33, 829–830 (2025). https://doi.org/10.1038/s41431-025-01853-6

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